ClinVar Miner

Submissions for variant NM_001101426.4(CRPPA):c.1105GTT[3] (p.Val372del)

dbSNP: rs587777798
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000596292 SCV000700976 pathogenic not provided 2015-10-27 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000714703 SCV000845425 likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 2018-08-07 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000144516 SCV000845426 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2U 2018-08-07 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000596292 SCV001249111 pathogenic not provided 2019-04-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002228673 SCV002508424 pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7; Autosomal recessive limb-girdle muscular dystrophy type 2U 2022-12-22 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 156455). This variant has been observed in individual(s) with ISPD-related conditions (PMID: 23288328, 23390185, 27234031, 31127727). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant, c.1114_1116del, results in the deletion of 1 amino acid(s) of the ISPD protein (p.Val372del), but otherwise preserves the integrity of the reading frame. For these reasons, this variant has been classified as Pathogenic. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown.
Revvity Omics, Revvity RCV000596292 SCV003830180 likely pathogenic not provided 2022-04-01 criteria provided, single submitter clinical testing
GeneDx RCV000596292 SCV004036976 pathogenic not provided 2023-09-07 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In-frame deletion of 1 amino acid in a non-repeat region; In silico analysis supports a deleterious effect on protein structure/function; Also known as ISPD c.1114_1116del p.(Val372del); This variant is associated with the following publications: (PMID: 23288328, 34485198, 27234031, 23390185, 31127727, 30708323, 31375477, 37526466, 34307571)
OMIM RCV000144516 SCV000189835 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2U 2013-03-05 no assertion criteria provided literature only

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