ClinVar Miner

Submissions for variant NM_152328.5(ADSS1):c.193-5037G>T

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002790447 SCV003032859 uncertain significance not provided 2022-05-12 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 31 of the ADSSL1 protein (p.Ala31Ser). 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 has not been reported in the literature in individuals affected with ADSSL1-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Revvity Omics, Revvity RCV003138356 SCV003820498 uncertain significance Myopathy, distal, 5 2019-08-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV004064770 SCV004865104 uncertain significance Inborn genetic diseases 2022-10-25 criteria provided, single submitter clinical testing The c.91G>T (p.A31S) alteration is located in exon 1 (coding exon 1) of the ADSSL1 gene. This alteration results from a G to T substitution at nucleotide position 91, causing the alanine (A) at amino acid position 31 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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