ClinVar Miner

Submissions for variant NM_001171.6(ABCC6):c.4063_4080del (p.Ser1355_Leu1360del)

dbSNP: rs2152211980
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001967440 SCV002207195 pathogenic not provided 2023-07-14 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the ABCC6 protein in which other variant(s) (p.Arg1357Trp) have been determined to be pathogenic (PMID: 15645653, 16086317, 28912966). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 1430179). This variant has been observed in individual(s) with clinical features of pseudoxanthoma elasticum (PMID: 21179111). This variant is not present in population databases (gnomAD no frequency). This variant, c.4063_4080del, results in the deletion of 6 amino acid(s) of the ABCC6 protein (p.Ser1355_Leu1360del), but otherwise preserves the integrity of the reading frame.

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