ClinVar Miner

Submissions for variant NM_005559.4(LAMA1):c.6050C>T (p.Ser2017Phe)

gnomAD frequency: 0.00004  dbSNP: rs778208901
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001334421 SCV001527266 uncertain significance Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome 2018-07-31 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV002547325 SCV003261991 uncertain significance not provided 2021-10-18 criteria provided, single submitter clinical testing This sequence change replaces serine with phenylalanine at codon 2017 of the LAMA1 protein (p.Ser2017Phe). The serine residue is weakly conserved and there is a large physicochemical difference between serine and phenylalanine. This variant is present in population databases (rs778208901, ExAC 0.04%). This variant has not been reported in the literature in individuals affected with LAMA1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1032336). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.

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